Canonical Allele Identifier: CA467387226

Gene: HMCN2

Linked Data

• dbSNP Id: rs1304034089
• gnomAD v2: 9-133308802-C-T
• gnomAD v4: 9-130433415-C-T
• MyVariant Identifiers: chr9:g.133308802C>T (hg19) ; chr9:g.130433415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433415C>T , CM000671.2:g.130433415C>T	GRCh38
NC_000009.11:g.133308802C>T , CM000671.1:g.133308802C>T	GRCh37
NC_000009.10:g.132298623C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14905C>T	ENSP00000485357.2:p.Leu4969=
ENST00000683500.2:c.14962C>T MANE Select	ENSP00000508292.2:p.Leu4988=
ENST00000623487.1:n.3308C>T
ENST00000624552.3:c.14902C>T	ENSP00000485357.1:p.Leu4968=
NM_001291815.1:c.14962C>T	NP_001278744.1:p.Leu4988=
XM_011518465.1:c.14839C>T	XP_011516767.1:p.Leu4947=
XM_011518466.1:c.14830C>T	XP_011516768.1:p.Leu4944=
XM_011518467.1:c.14785C>T	XP_011516769.1:p.Leu4929=
NM_001291815.2:c.14962C>T MANE Select	NP_001278744.1:p.Leu4988=
XM_011518465.2:c.14839C>T	XP_011516767.1:p.Leu4947=
XM_011518466.2:c.14830C>T	XP_011516768.1:p.Leu4944=
XM_011518467.2:c.14785C>T	XP_011516769.1:p.Leu4929=
XM_017014585.1:c.11743C>T	XP_016870074.1:p.Leu3915=
XM_017014586.1:c.7540C>T	XP_016870075.1:p.Leu2514=
XR_001746957.1:n.92+206G>A
XR_001746958.1:n.92+206G>A