Canonical Allele Identifier: CA357378541

Gene: BMP2K

Linked Data

• dbSNP Id: rs1732009148
• gnomAD v4: 4-78865624-G-C
• MyVariant Identifiers: chr4:g.79786778G>C (hg19) ; chr4:g.78865624G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865624G>C , CM000666.2:g.78865624G>C	GRCh38
NC_000004.11:g.79786778G>C , CM000666.1:g.79786778G>C	GRCh37
NC_000004.10:g.80005802G>C	NCBI36
NG_047162.1:g.94247G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1135G>C MANE Select	ENSP00000424668.2:p.Ala379Pro
ENST00000335016.9:c.1135G>C	ENSP00000334836.5:p.Ala379Pro
ENST00000389010.7:c.*111G>C	ENSP00000373662.3:n.*111G>C
ENST00000502613.1:c.212G>C
ENST00000502871.5:c.1135G>C	ENSP00000421768.1:p.Ala379Pro
ENST00000505725.1:n.417G>C
ENST00000628286.1:c.*111G>C	ENSP00000487317.1:n.*111G>C
NM_017593.3:c.1135G>C	NP_060063.2:p.Ala379Pro
NM_198892.1:c.1135G>C	NP_942595.1:p.Ala379Pro
XM_005263117.1:c.1135G>C	XP_005263174.1:p.Ala379Pro
XM_011532101.1:c.895G>C	XP_011530403.1:p.Ala299Pro
XM_011532102.1:c.1135G>C	XP_011530404.1:p.Ala379Pro
XM_017008381.1:c.895G>C	XP_016863870.1:p.Ala299Pro
XM_017008382.1:c.247G>C	XP_016863871.1:p.Ala83Pro
NM_017593.4:c.1135G>C	NP_060063.2:p.Ala379Pro
NM_017593.5:c.1135G>C	NP_060063.2:p.Ala379Pro
NM_198892.2:c.1135G>C MANE Select	NP_942595.1:p.Ala379Pro