Canonical Allele Identifier: CA375219469

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433433-G-T
• MyVariant Identifiers: chr9:g.133308820G>T (hg19) ; chr9:g.130433433G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433433G>T , CM000671.2:g.130433433G>T	GRCh38
NC_000009.11:g.133308820G>T , CM000671.1:g.133308820G>T	GRCh37
NC_000009.10:g.132298641G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14923G>T	ENSP00000485357.2:p.Val4975Leu
ENST00000683500.2:c.14980G>T MANE Select	ENSP00000508292.2:p.Val4994Leu
ENST00000623487.1:n.3326G>T
ENST00000624552.3:c.14920G>T	ENSP00000485357.1:p.Val4974Leu
NM_001291815.1:c.14980G>T	NP_001278744.1:p.Val4994Leu
XM_011518465.1:c.14857G>T	XP_011516767.1:p.Val4953Leu
XM_011518466.1:c.14848G>T	XP_011516768.1:p.Val4950Leu
XM_011518467.1:c.14803G>T	XP_011516769.1:p.Val4935Leu
NM_001291815.2:c.14980G>T MANE Select	NP_001278744.1:p.Val4994Leu
XM_011518465.2:c.14857G>T	XP_011516767.1:p.Val4953Leu
XM_011518466.2:c.14848G>T	XP_011516768.1:p.Val4950Leu
XM_011518467.2:c.14803G>T	XP_011516769.1:p.Val4935Leu
XM_017014585.1:c.11761G>T	XP_016870074.1:p.Val3921Leu
XM_017014586.1:c.7558G>T	XP_016870075.1:p.Val2520Leu
XR_001746957.1:n.92+188C>A
XR_001746958.1:n.92+188C>A