Canonical Allele Identifier: CA5283053

Gene: HMCN2

Linked Data

• dbSNP Id: rs774305238
• ExAC: 9:133308838 G / T
• gnomAD v2: 9-133308838-G-T
• gnomAD v4: 9-130433451-G-T
• MyVariant Identifiers: chr9:g.133308838G>T (hg19) ; chr9:g.130433451G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433451G>T , CM000671.2:g.130433451G>T	GRCh38
NC_000009.11:g.133308838G>T , CM000671.1:g.133308838G>T	GRCh37
NC_000009.10:g.132298659G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14941G>T	ENSP00000485357.2:p.Val4981Leu
ENST00000683500.2:c.14998G>T MANE Select	ENSP00000508292.2:p.Val5000Leu
ENST00000623487.1:n.3344G>T
ENST00000624552.3:c.14938G>T	ENSP00000485357.1:p.Val4980Leu
NM_001291815.1:c.14998G>T	NP_001278744.1:p.Val5000Leu
XM_011518465.1:c.14875G>T	XP_011516767.1:p.Val4959Leu
XM_011518466.1:c.14866G>T	XP_011516768.1:p.Val4956Leu
XM_011518467.1:c.14821G>T	XP_011516769.1:p.Val4941Leu
NM_001291815.2:c.14998G>T MANE Select	NP_001278744.1:p.Val5000Leu
XM_011518465.2:c.14875G>T	XP_011516767.1:p.Val4959Leu
XM_011518466.2:c.14866G>T	XP_011516768.1:p.Val4956Leu
XM_011518467.2:c.14821G>T	XP_011516769.1:p.Val4941Leu
XM_017014585.1:c.11779G>T	XP_016870074.1:p.Val3927Leu
XM_017014586.1:c.7576G>T	XP_016870075.1:p.Val2526Leu
XR_001746957.1:n.92+170C>A
XR_001746958.1:n.92+170C>A