Canonical Allele Identifier: CA292956749

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1002798480
• MyVariant Identifiers: chr17:g.61918107A>G (hg19) ; chr17:g.63840747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63840747A>G , CM000679.2:g.63840747A>G	GRCh38
NC_000017.10:g.61918107A>G , CM000679.1:g.61918107A>G	GRCh37
NC_000017.9:g.59271839A>G	NCBI36
NG_053004.1:g.7245T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.104+1712T>C
ENST00000698022.1:c.33+1712T>C	ENSP00000513504.1:n.33+1712T>C
ENST00000448276.7:c.216+1712T>C MANE Select	ENSP00000392617.2:n.216+1712T>C
ENST00000225742.13:c.-10+1634T>C	ENSP00000225742.9:n.-10+1634T>C
ENST00000448276.6:c.216+1712T>C	ENSP00000392617.2:n.216+1712T>C
ENST00000577686.1:n.52+1712T>C
ENST00000584400.5:c.216+1712T>C	ENSP00000464503.1:n.216+1712T>C
ENST00000613943.4:c.105+1712T>C	ENSP00000483605.1:n.105+1712T>C
NM_001098426.1:c.216+1712T>C	NP_001091896.1:n.216+1712T>C
XM_005257604.2:c.-10+1634T>C	XP_005257661.2:n.-10+1634T>C
NM_001330439.1:c.-10+1634T>C	NP_001317368.1:n.-10+1634T>C
NM_001098426.2:c.216+1712T>C MANE Select	NP_001091896.1:n.216+1712T>C