Canonical Allele Identifier: CA156515381

Gene: CHN2 CPVL

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29178543G>A , CM000669.2:g.29178543G>A	GRCh38
NC_000007.13:g.29218159G>A , CM000669.1:g.29218159G>A	GRCh37
NC_000007.12:g.29184684G>A	NCBI36
NG_029365.2:g.36997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439384.6:n.311+31583G>A (CHN2)
ENST00000644824.1:c.274+31583G>A	ENSP00000495614.1:n.274+31583G>A
ENST00000409850.5:c.-11+2747C>T (CPVL)	ENSP00000387164.1:n.-11+2747C>T
ENST00000437527.1:c.-11+2747C>T (CPVL)	ENSP00000416555.1:n.-11+2747C>T
ENST00000439384.5:c.274+31583G>A (CHN2)	ENSP00000409843.1:n.274+31583G>A
ENST00000449801.5:c.-11+2747C>T (CPVL)	ENSP00000413287.1:n.-11+2747C>T
ENST00000455544.5:c.-11+2747C>T (CPVL)	ENSP00000412857.1:n.-11+2747C>T
ENST00000474070.5:c.149+31798G>A (CHN2)
ENST00000488891.6:n.283+2747C>T (CPVL)
NM_001293069.1:c.274+31583G>A (CHN2)	NP_001279998.1:n.274+31583G>A
XM_011515105.1:c.274+31583G>A (CHN2)	XP_011513407.1:n.274+31583G>A
XM_011515106.1:c.274+31583G>A (CHN2)	XP_011513408.1:n.274+31583G>A
XM_011515108.1:c.27+31583G>A (CHN2)	XP_011513410.1:n.27+31583G>A
XM_011515109.1:c.27+31583G>A (CHN2)	XP_011513411.1:n.27+31583G>A
XM_011515110.1:c.27+31583G>A (CHN2)	XP_011513412.1:n.27+31583G>A
XM_011515112.1:c.274+31583G>A (CHN2)	XP_011513414.1:n.274+31583G>A
NM_001348052.1:c.-11+2747C>T (CPVL)	NP_001334981.1:n.-11+2747C>T
NM_001348054.1:c.-11+2747C>T (CPVL)	NP_001334983.1:n.-11+2747C>T
XM_011515105.2:c.274+31583G>A (CHN2)	XP_011513407.1:n.274+31583G>A
XM_011515106.2:c.274+31583G>A (CHN2)	XP_011513408.1:n.274+31583G>A
XM_017011721.1:c.274+31583G>A (CHN2)	XP_016867210.1:n.274+31583G>A
NM_001371255.1:c.-207+2747C>T (CPVL)	NP_001358184.1:n.-207+2747C>T
NM_001371256.1:c.-207+2747C>T (CPVL)	NP_001358185.1:n.-207+2747C>T
NM_001371257.1:c.-11+2747C>T (CPVL)	NP_001358186.1:n.-11+2747C>T
NM_001371258.1:c.-207+2747C>T (CPVL)	NP_001358187.1:n.-207+2747C>T
NM_001371260.1:c.-11+2747C>T (CPVL)	NP_001358189.1:n.-11+2747C>T
NM_001371261.1:c.-11+7904C>T (CPVL)	NP_001358190.1:n.-11+7904C>T
NM_001371262.1:c.-11+2747C>T (CPVL)	NP_001358191.1:n.-11+2747C>T
NM_001371263.1:c.-11+2747C>T (CPVL)	NP_001358192.1:n.-11+2747C>T
NM_001371264.1:c.-11+2747C>T (CPVL)	NP_001358193.1:n.-11+2747C>T
NM_001371265.1:c.-497+2747C>T (CPVL)	NP_001358194.1:n.-497+2747C>T
NM_001371266.1:c.-365+2747C>T (CPVL)	NP_001358195.1:n.-365+2747C>T
NM_001371267.1:c.-338+2747C>T (CPVL)	NP_001358196.1:n.-338+2747C>T
NM_001371268.1:c.-72+2747C>T (CPVL)	NP_001358197.1:n.-72+2747C>T
NM_001398427.1:c.-390+31583G>A (CHN2)	NP_001385356.1:n.-390+31583G>A